ORPHA:48
Congenital bilateral absence of vas deferens
Also known as: CBAVD · Congenital bilateral agenesis of vas deferens · Congenital bilateral aplasia of vas deferens
Publications
1,351
91.4th percentile
Trials
0
Interventional, condition-specific
Researchers
1,189
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare non-syndromic urogenital tract characterized by improper development of the vas deferens leading to male infertility.
How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018801
- UMLS:C1865433
Additional Mondo synonyms (2)
congenital bilateral agenesis of vas deferens · congenital bilateral aplasia of vas deferens
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
1,351 matched papers (610 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
1,351
1,351 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
1,351 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
610 in the last 10 years · high confidence · 91.4th percentile (publications denominator)
Phrase hits: 1,351 · MeSH hits: 0
Who's working on it?
1,189
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Li J6 papers · 2026
Reproduction Medical Center of West China Second University Hospital, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Sichuan University, Chengdu, China.
Papers in Europe PMC - 02Zhang Y6 papers · 2025
Institutes for Systems Genetics, West China Hospital Sichuan University, Chengdu 610041, China.
Papers in Europe PMC - 03Li H5 papers · 2024
Guangdong Provincial Key Laboratory of Animal Molecular Design and Precise Breeding, School of Life Science and Engineering, Foshan University, Foshan, 528255, P.R. China. okhuali@fosu.edu.cn.
Papers in Europe PMC - 04Li L5 papers · 2025
Department of Ultrasound, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China (mainland).
Papers in Europe PMC - 05Shah R5 papers · 2026
Lilavati Hospital and Research Centre, Mumbai, Maharashtra, India.
Papers in Europe PMC - 06Ramasamy R4 papers · 2024
Desai Sethi Urology Institute, Miller School of Medicine, University of Miami, Miami, FL, USA.
Papers in Europe PMC - 07Tüttelmann F4 papers · 2025
Centre of Medical Genetics, Institute of Reproductive Genetics, University of Münster, Munster, Germany.
Papers in Europe PMC - 08Yang X4 papers · 2024
Department of Otolaryngology, Head and Neck Surgery, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
Papers in Europe PMC - 09Campbell K3 papers · 2023
Desai Sethi Urology Institute, Miller School of Medicine, University of Miami, Miami, FL, USA.
Papers in Europe PMC - 10Cannarella R3 papers · 2026
Global Andrology Forum, Global Andrology Foundation, Moreland Hills, OH, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT06045702·RECRUITING·Establishment of a Primary Epididymal Cell Model From Epididymal Samples to Study CFTR Gene Regulation
Conditions: Cystic Fibrosis · Congenital Bilateral Absence of Vas Deferens · Sterility, Male·Matched via name phrase
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Congenital bilateral absence of vas deferens" OR "Congenital bilateral absence of the vas deferens" OR "CBAVD" OR "Congenital bilateral agenesis of vas deferens" OR "Congenital bilateral agenesis of the vas deferens" OR "Congenital bilateral aplasia of vas deferens" OR "Congenital bilateral aplasia of the vas deferens"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital bilateral absence of vas deferens" OR "Congenital bilateral absence of the vas deferens" OR "CBAVD" OR "Congenital bilateral agenesis of vas deferens" OR "Congenital bilateral agenesis of the vas deferens" OR "Congenital bilateral aplasia of vas deferens" OR "Congenital bilateral aplasia of the vas deferens"
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T12:13:41.017Z